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rs386833427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833427(C;C)
Make rs386833427(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position177438848
GeneAGA
is asnp
is mentioned by
dbSNPrs386833427
ebirs386833427
HLIrs386833427
Exacrs386833427
Varsomers386833427
Maprs386833427
PheGenIrs386833427
hapmaprs386833427
1000 genomesrs386833427
hgdprs386833427
ensemblrs386833427
gopubmedrs386833427
geneviewrs386833427
scholarrs386833427
googlers386833427
pharmgkbrs386833427
gwascentralrs386833427
openSNPrs386833427
23andMers386833427
23andMe allrs386833427
SNP Nexus

SNPshotrs386833427
SNPdbers386833427
MSV3drs386833427
GWAS Ctlgrs386833427
Max Magnitude0
ClinVar
Risk rs386833427(C;C)
Alt rs386833427(C;C)
Reference rs386833427(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178360002A>G
CLNSRC ClinVar
CLNACC RCV000049355.1,


[PMID 9137882] Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.